DALRD3 and Translation: Lightning a Tdark?

This project has been approved for funding - the activation procedure is still pending

This project has been funded thanks to the Joint Call Fondazione Cariplo and Fondazione Telethon 2023

Epileptic encephalopathies are a group of brain disorders characterized by epileptiform abnormalities, frequently associated with progressive cerebral dysfunction. So far, researchers have found mutations in several genes that can cause several forms of the disease. Unfortunately, we still lack a full comprehension on how these complex mutations lead to disease, as well as effective therapeutic strategies.

The genome encodes for thousands of genes; for some of them we know virtually nothing, thus they represent a potential source of novel information. DALRD3 is an uncharacterized protein and mutations in DALRD3 gene may cause epileptic encephalopathy. Some scattered observations suggest that DALRD3 may regulate a specific cellular process, known as translation. Our laboratory is a leading lab in the study of translational control. Here, we want to apply our state-of-the art technologies to generate cellular models of DALRD3 loss.  Next, we will use these novel models to pinpoint the specific mechanisms that may cause the disease. By our study, we can identify potential therapeutic targets that can be useful both in the case of DALRD3 mutations, and more generally in other epileptic encephalopathies.